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SYNPR synaptoporin [ Homo sapiens (human) ]

Gene ID: 132204, updated on 7-Jun-2020

Summary

Official Symbol
SYNPRprovided by HGNC
Official Full Name
synaptoporinprovided by HGNC
Primary source
HGNC:HGNC:16507
See related
Ensembl:ENSG00000163630
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPO
Expression
Restricted expression toward brain (RPKM 14.4) See more
Orthologs

Genomic context

See SYNPR in Genome Data Viewer
Location:
3p14.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (63200604..63616924)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63263914..63602597)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 698 Neighboring gene uncharacterized LOC107986043 Neighboring gene ubiquitin like 5 pseudogene 3 Neighboring gene SYNPR antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 134 Neighboring gene VISTA enhancer hs1387 Neighboring gene sentan, cilia apical structure protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26651, DKFZp686G0883

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
syntaxin-1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130003.2NP_001123475.1  synaptoporin isoform 1

    See identical proteins and their annotated locations for NP_001123475.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC099056, AC099545, AC104436
    Consensus CDS
    CCDS46859.1
    UniProtKB/Swiss-Prot
    Q8TBG9
    Related
    ENSP00000418994.1, ENST00000478300.6
    Conserved Domains (1) summary
    pfam01284
    Location:16216
    MARVEL; Membrane-associating domain
  2. NM_144642.5NP_653243.1  synaptoporin isoform 2 precursor

    See identical proteins and their annotated locations for NP_653243.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate exon in the 5' CDS, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC104436, AF411860, AL834457, DA505318
    Consensus CDS
    CCDS46860.1
    UniProtKB/Swiss-Prot
    Q8TBG9
    Related
    ENSP00000295894.5, ENST00000295894.9
    Conserved Domains (1) summary
    pfam01284
    Location:73196
    MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    63200604..63616924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005731.1XP_016861220.1  synaptoporin isoform X1

  2. XM_017005732.2XP_016861221.1  synaptoporin isoform X2

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